I would like to thank Dr Barriales-Villa et al. for their interest in our work. There are no doubts that arrhythmic risk stratification in LMNA cardiomyopathy is still challenging. The prognostic impact of reduced left ventricular ejection fraction (LVEF) and non-sustained ventricular tachycardias (NSVT) has been confirmed by several studies, including the REDLAMINA cited by the authors.1,2 Conversely, the evidence is weaker for other traditional risk factors like male gender and non-missense mutations.1,2 Although efforts have been made to integrate all the known prognostic determinants under a single multi-parametric score,3 there is still no recognized role for cardiac magnetic resonance in arrhythmic risk stratification. To our knowledge, we published the first study in LMNA cardiomyopathy, showing an association between late gadolinium enhancement (LGE) and the occurrence of major ventricular arrhythmias during follow-up.4 In particular, the high negative predictive value documented for LGE should be contextualized to the study population, characterized by a low baseline risk profile.4 Results should not be improperly generalized. For instance, patients with reduced LVEF and documented NSVT might be at high risk of malignant ventricular arrhythmias independently of LGE.1 Instead, LGE may be particularly helpful to improve risk stratification in otherwise low-risk subjects, as those with early-stage cardiomyopathy and preserved systolic function. Consistently, it has been recently suggested to consider LVEF as a continuous risk-modifier variable,3 and to shift the prognostic cutoff from the current 45% to an earlier one, as high as 50%.2,5 Within an updated multi-parametric model, LGE is not expected to replace the traditional risk factors, but simply to play as an additional prognostic marker (Figure 1). A further contribution to risk stratification may come from extra-cardiac laminopathies, as already shown in patients with associated neuromuscular manifestations.5 Since the disease is rare and complex, multicentre and multidisciplinary studies are strongly advocated to improve patient selection for primary prevention cardioverter-defibrillator implant.
Multi-parametric arrhythmic risk stratification in LMNA cardiomyopathy. LMNA, lamin A/C gene; SCD, sudden cardiac death.
Conflict of interest: none declared.
